Absence of Hotspot TERT Promoter Mutations in Brazilian Patients with Breast

  • Rafaela Lima Causin
  • Sara de Freitas Abrão
  • Adriana Cruvinel-Carloni
  • Adriane Feijó Evangelista
  • Cristiano de Pádua Souza
  • Ana Caroline Neuber
  • René Aloisio da Costa Vieira
  • Rozany Mucha Dufloth
  • Rui Manuel Reis
  • Márcia Maria Chiquitelli Marques Hospital de Cancer de Barretos/FACISB
Palavras-chave: Breast carcinomas; TERT promoter mutations, early detection

Resumo

O câncer de mama é a doença maligna mais comum entre as mulheres, com taxas crescentes em todo o mundo. Os carcinomas mamários são considerados uma doença complexa heterogênea e, apesar de vários estudos sobre seus aspectos moleculares, alguns genes de alto risco não foram relatados em determinadas populações. Mutações pontuais hotspot (c.-124 pb G> A e c.-146 pb G> A) no promotor da transcriptase reversa da telomerase (TERT) em vários tipos de tumores sólidos foram recentemente descritas. No entanto, nenhum estudo extenso avaliou essas alterações de sequência no carcinoma de mama. Neste estudo, objetivamos determinar a frequência de mutações do promotor TERT do hotspot usando o sequenciamento Sanger em uma série de 99 pacientes brasileiras com câncer de mama. A análise de mutação mostrou a ausência de mutações pontuais hotspot no promotor TERT, mas revelou uma alta frequência do alelo menor rs2853669. Podemos concluir que as mutações somáticas do hotspot TERT não são um fator contribuinte na carcinogênese do câncer de mama na população brasileira.

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Publicado
2020-12-30
Seção
Ciências Biológicas

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